Thrombophilia: Inherited and Acquired

The information contained in this article is not intended to be a medical diagnosis, treatment or medical advice in any way, as it is general information and cannot be relied on without consultation with your physician. It is not intended nor is it implied to be a substitute for profession medical advice. As medical information can change rapidly, we strongly encourage you to discuss all health matters and concerns with your physician before embarking on new diagnostic or treatment strategies.

Contents

1. Introduction
2. Diagnosis of Inherited Thrombophilia
3. Diagnosis of Acquired Thrombophilia (Antiphospholipid Antibodies)
4. Incidence of Thrombophilia
5. Evaluation of the Placenta from Complicated Pregnancies
6. Advice
7. Conclusions
8. Reference

I. Introduction 

Throughout an entire normal pregnancy, the mother's ability to produce blood clots in the uterus and the placenta is suppressed. Non-clotting blood freely flows to and nourishes the baby. Some mothers may have certain conditions, both acquired and inherited, where clotting of the blood nourishing the baby is not suppressed. This tendency for the blood to clot is called thrombophilia. The resulting clots may cause the following complications to occur:

1. Implantation failure
2. Miscarriages
3. Pre-eclampsia
4. Intrauterine growth retardation
5. Oligohydramnios (low levels of amniotic fluid)
6. Abruptio placenta
7. Premature labor (often caused incompetent cervix syndrome)
8. Unexplained intrauterine fetal death
9. Thrombophlebitis (blood clots in the veins or the arteries during pregnancy)

Any woman experiencing any of these complications needs to be evaluated for thrombophilia.

At the time of attachment of the embryo with the endometrium, the endometrium has reached a certain thickness of (10-14 mm link uterine biophysical profile) and blood vessels have grown into zone three, the top most layer of the endometrium. The hormones of ovulation have opened these blood vessels wider than others and the blood flow never stops. Within 24 hours of attachment the embryo (placental cells) have found these blood vessels, bored into them, opened them up and the nourishment process for the baby begins. Elsewhere on this web site we have talked about pregnancies failing because the lining and the blood vessels are not prepared. In this document I discuss how inherited or acquired thrombophilia can cause the blood to begin to clot off and starve the embryo. This may occur either early or late in pregnancy. This is why you see the long list above of nine complications that can occur when this happens.

Once diagnosed as acquired or inherited, thrombophilia can be treated and healthy, normally grown babies can be born. The treatment for each is different.

II. Diagnosis of Inherited Thrombophilia 

1. Lieden Factor V mutation R560Q (DNA test by PCR);
2. Hyperhomocysteinemia MTHFR C677T and A1298C mutations (DNA test by PCR);
3. Prothrombin Gene Mutation 20210 (GA) DNA test by PCR;
4. Protein C levels;
5. Protein S levels; and
6. Activated Protein C activity.
7. PAI-1 gene mutation

These tests can be done by most local laboratories.

III. Diagnosis of Acquired Thrombophilia (Antiphospholipid Antibodies) 

1. Antibodies to six phospholipids of the IgM, IgG and IgA classes;
2. Lupus anticoagulant antibody;
3. Russell Viper Venom Time;
4. Activated Partial Thromboplastin Time (APTT);
5. and Prothrombin Time (PT), Partial Prothrombin Time (PTT).

These laboratory assays are available to doctors dealing with most reference laboratories. If assistance is needed, please e-mail our office.

IV. Incidence of Thrombophilia 

These percentages of clotting problems with disorders of pregnancy are very, very high.

Doctors are prone to counsel patients with these problems that it will be better the next time and that occasionally these complications occur for no good reason. This is simply bad advice. When pregnancies fail, when complications occur, something is wrong and the patient must demand that the doctor test to find a reason. When women with normal pregnancies without any complications are studied, these problems of thrombophilia do not exist. Since these problems can be passed on to the child a responsible parent must determine if the child, often struggling in the high risk nursery, is also at risk for clotting.

V. Evaluation of the Placenta from Complicated Pregnancies 

Slides and paraffin blocks of the placenta are saved in the pathology department of the hospital that served the patient when the baby was born or lost. Registered patients can send these blocks to me for immune pathology. Clotting in the placenta or the blood vessels to the uterus is a Category 2 immune problem and can be diagnosed by doing immune pathology. Couples are encouraged to ask pathologists to send these blocks for study before embarking on another pregnancy since the most effective treatment must be initiated during the cycle of conception before the baby is conceived. (See The Importance of Pathological Evaluation of Pregnancies that Terminated in Spontaneous Miscarriage for more information).

VI. Advice 

Since patients with inherited thrombophilia suffer clotting complications throughout life with a higher frequency than those without, monitoring for this complication is essential. The incidence of clotting disorders is from eight to 40 times higher than in patients without the thrombophilia disorder. Women with thrombophilia should

• have their children tested so that life style or dietary changes can be made from the beginning.
• choose contraception other than birth control pills.
• see a hematologist and check if you need anticoagulation treatment.
• consult with a hematologist if facing a surgical procedure, prolonged inactivity or if experienceing an injury or a fracture.
• alert other female family members of the inherited condition and urge testing of relatives prior to initiating a pregnancy.

VII. Conclusions 

Thrombophilia, inherited or acquired, is very common. Any woman experiencing any of the above complications of pregnancy deserves to be tested. Any relative of any woman experiencing the above complications should demand testing before a pregnancy is planned or initiated.

Much of the information in this simple document is very new. Many doctors who deal with pregnant women may not know about this problem. We are living in an age where up-to-date information is readily available to the consumer. Most individuals are sufficiently bright and capable to begin to collect information about the problems they have experienced and understand this information.

The reproductive system is incredibly overbuilt for success and when it fails, something is surely wrong. We do not have all the answers but we have answers to many of them. Preventive medicine, often required during the cycle of conception, can insure the safe arrival of your child in your home after you have experienced an incredibly long and disappointing journey of trying.

Thrombophilia is much more common in women than in men. Perhaps there is survival advantage to women to have thrombophilia. Perhaps they are less prone to die of post partum hemorrhage, the chief cause of death in pregnant women.

VIII. Reference 

Increased frequency of Genetic Thrombophilia in Women with complications of Pregnancy. Kupferminc, JF, Eldor, A. et al 1999 New England Journal of Medicine V. 340 pp 9-13

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Alan E. Beer Center for Reproductive Immunology & Genetics
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Date: 7-24-08, Time: 9:51 am.

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